Family launch fundraiser for daughter with rare condition

single image

A family in Aylesbury Vale have launched a fundraiser to help improve the life of their daughter who has an extremely rare neurological condition.

Mara Hook, 2, from Whitchurch, has a GABBR2 gene mutation which affects her ability to communicate and speak.

Her father, Richard, learned that there are only two known cases of her mutation in the UK. The international Facebook group they joined found 15 similar mutations, with the oldest affected child being just 11.

Mara also has autistic behaviours and takes longer to reach certain stages of development than other children her age, both of which are linked to the condition.

In an attempt to improve Mara’s life quality, the family took her to the Stem Cell Institute in Panama last July.

Richard said on Mara’s JustGiving page, which can be accessed online here: “Since returning in July we have seen some amazing improvements in her cognitive ability, physical strength and most startlingly her eyesight.

“She has for the first time in her life been able to fix and follow, to look people in the eye and really focus on objects. This improvement happened within a few weeks and has steadily improved over the last few months.”

The family now hope to return to Panama for Mara to receive more stem cell treatment. With ongoing private treatments costing weekly and the procedure itself priced at £16,000, the Hook’s are seeking assistance in raising funds.

“We have spoken to many people at the clinic but also other parents who believe the stem cell treatment can be performed many times. The gains are permanent and life changing. We owe it to Mara to try everything in our power to improve her life,” Richard wrote.

He told The Bucks Herald: “She can just about sit up at the moment. Our hope is that she may be able to walk, and run, and jump, and play, and all those sorts of things that at the moment she can’t do. From the next round of treatment, we’d hope to see an improvement in her cognitive ability.

“Her understanding of what is going on around her. Even if she can’t necessarily communicate with us, she would understand her world a bit more. And physically she can get a bit stronger and potentially see improvement in her eyesight a bit more.

“We accept that there may be only slight chances, but because her base level is so low even slight changes would make a huge difference.”

Further treatment abroad may not improve other aspects of Mara’s condition, Richard has acknowledged the stem cell treatment is unlikely to lead to a removal or an outright cure of the mutation.

This means her speech and communication difficulties are likely to remain.The family has set up a Facebook page where people can follow Mara’s progress


IMAGE SOURCE: The Bucks Herald

You may like